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European Journal of Human Genetics: EJHG

Anya E R Prince
Fear of genetic discrimination has led individuals worldwide to avoid medically recommended genetic testing and participation in genomics research, causing potential health effects as research and clinical care are stymied. In response, many countries have adopted policies that regulate how insurers, such as life, disability, or critical illness insurers, can underwrite using genetic test results. This article presents a comparison of policies in the United Kingdom, Canada, and Australia, through analysis of interviews with 59 key stakeholders representing insurance, government, advocacy, academia, and genetics...
November 6, 2018: European Journal of Human Genetics: EJHG
Aurélien Trimouille, Angèle Tingaud-Sequeira, Perrine Pennamen, Gwenaelle André, Julie Bouron, Cécile Boucher, Patricia Fergelot, Didier Lacombe, Benoit Arveiler, Caroline Rooryck
The organization of mammalian genomes into sub-megabase sized Topologically Associated Domains (TADs) has recently been revealed by techniques derived from Chromosome Conformation Capture (3 C), such as High Chromosome Contact map (Hi-C). Disruption of this organization by structural variations can lead to ectopic interactions between enhancers and promoters, and to alteration of genes expression patterns. This mechanism has already been described as the main pathophysiological mechanism in several syndromes with congenital malformations...
October 29, 2018: European Journal of Human Genetics: EJHG
Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Maria Soller, Ulf Kristoffersson, Arne G Lindgren
Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations. We systematically searched the publically available database Online Mendelian Inheritance in Man, and validated the entries against original peer-reviewed publications in PubMed. First, we selected known pathogenic or putatively pathogenic stroke genes reported in at least one person with stroke, and classified the stroke phenotype for each gene into eight subgroups: (1) large artery atherosclerotic, (2) large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection, occlusion), (3) cerebral small-vessel diseases, (4) cardioembolic (arrhythmia, heart defect, cardiomyopathy), (5) coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), (6) intracerebral hemorrhage, (7) vascular malformations (cavernoma, arteriovenous malformations), and (8) metabolism disorders...
October 24, 2018: European Journal of Human Genetics: EJHG
Paul Lacaze, Mark Pinese, Warren Kaplan, Andrew Stone, Marie-Jo Brion, Robyn L Woods, Martin McNamara, John J McNeil, Marcel E Dinger, David M Thomas
Allele frequency data from human reference populations is of increasing value for the filtering, interpretation, and assignment of pathogenicity to genetic variants. Aged and healthy populations are more likely to be selectively depleted of pathogenic alleles and therefore particularly suitable as a reference population for the major diseases of clinical and public health importance. However, reference studies of confirmed healthy elderly individuals have remained under-represented in human genetics. Here we describe the Medical Genome Reference Bank (MGRB), a large-scale comprehensive whole-genome data set of healthy elderly individuals...
October 24, 2018: European Journal of Human Genetics: EJHG
Lars A Forsberg
No abstract text is available yet for this article.
October 23, 2018: European Journal of Human Genetics: EJHG
Domenico Coviello, Virginia Bizzarri, Kevin McGhee, Ramona Moldovan
No abstract text is available yet for this article.
October 22, 2018: European Journal of Human Genetics: EJHG
Mariateresa Di Stazio, Chiara Collesi, Diego Vozzi, Wei Liu, Mike Myers, Anna Morgan, Pio Adamo D Adamo, Giorgia Girotto, Elisa Rubinato, Mauro Giacca, Paolo Gasparini
Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian pedigree affected by HHL but also prostate hyperplasia and increased ratio of the free/total PSA levels, with the unusual and extremely rare Y-linked pattern of inheritance. Using exome sequencing we found a missense variant (r.206A>T leading to p.Asp69Val) in the TBL1Y gene. TBL1Y is homologous of TBL1X, whose partial deletion has described to be involved in X-linked hearing loss...
October 19, 2018: European Journal of Human Genetics: EJHG
Alexandra Yu Filatova, Tatiana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Yu Skoblov
Nucleotide variants that disrupt normal splicing might be the cause of a large number of diseases. Nevertheless, because of the complexity of splicing regulation, it is not always possible to accurately predict the effect of nucleotide sequence changes on splicing events and mRNA structure. Thereby, a number of newly identified nucleotide variants are falsely classified as VUS (a variant of uncertain significance). In the present study we used the minigene assay to analyze the functional consequences of six intronic (c...
October 12, 2018: European Journal of Human Genetics: EJHG
Sara Roos, Kalliopi Sofou, Carola Hedberg-Oldfors, Gittan Kollberg, Ulrika Lindgren, Christer Thomsen, Mar Tulinius, Anders Oldfors
Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes. We present a 16-year-old girl with a history of exercise intolerance since childhood. Acylcarnitine species suggestive of multiple acyl-CoA dehydrogenase deficiency were found in serum, however genetic analysis did not reveal variants in genes associated with this disorder. Biochemical analyses of skeletal muscle mitochondria revealed an isolated and extremely low activity of cytochrome c oxidase (COX)...
October 12, 2018: European Journal of Human Genetics: EJHG
Daniele Carrieri, Heidi C Howard, Caroline Benjamin, Angus J Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F Halbersma-Konings, Leigh Jackson, Hülya Kayserili, Susan E Kelly, Anneke M Lucassen, Álvaro Mendes, Emmanuelle Rial-Sebbag, Vigdís Stefánsdóttir, Peter D Turnpenny, Carla G van El, Irene M van Langen, Martina C Cornel, Francesca Forzano
Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board...
October 11, 2018: European Journal of Human Genetics: EJHG
Biaobang Chen, Wenjing Wang, Xiandong Peng, Huafeng Jiang, Shaozhen Zhang, Da Li, Bin Li, Jing Fu, Yanping Kuang, Xiaoxi Sun, Xueqian Wang, Zhihua Zhang, Ling Wu, Zhou Zhou, Qifeng Lyu, Zheng Yan, Xiaoyan Mao, Yao Xu, Jian Mu, Qiaoli Li, Li Jin, Lin He, Qing Sang, Lei Wang
Human oocyte maturation is a precondition for fertilization and ensuing embryonic development. Previously, we identified TUBB8 variants as a genetic determinant of human oocyte maturation arrest and showed that these variants cause variable and mixed phenotypes in oocyte maturation and early embryo development. We also estimated that rare inherited or de novo variants in the TUBB8 gene accounted for 30% of individuals in a small cohort of patients affected by oocyte maturation arrest. In the present study, we recruited a further 87 patients from unrelated families diagnosed with oocyte maturation or early embryonic arrest and identified 30 patients carrying TUBB8 variants...
October 8, 2018: European Journal of Human Genetics: EJHG
Sanne L van der Steen, Diewertje Houtman, Iris M Bakkeren, Robert-Jan H Galjaard, Marike G Polak, Jan J Busschbach, Aad Tibben, Sam R Riedijk
Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). Clinicians are challenged to comprehensively discuss the complex information in a patient-centered and non-directive manner, to allow for patients' informed decision-making. This study explored the information-centeredness, patient-centeredness, and level of non-directivity of different clinicians and examined group differences between their patients. First, semi-structured interviews with four senior obstetricians and one senior nurse were held regarding their information provision, their adaptation of a patient-centered attitude, and their practice of non-directivity...
October 8, 2018: European Journal of Human Genetics: EJHG
Lonneke Haer-Wigman, Vyne van der Schoot, Ilse Feenstra, Anneke T Vulto-van Silfhout, Christian Gilissen, Han G Brunner, Lisenka E L M Vissers, Helger G Yntema
Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical question, but of medical relevance to the patients and their families. With ongoing discussions on the utility of disclosing or searching for such variants, it is of crucial importance to obtain unbiased insight in the prevalence of these incidental or secondary findings, in order to better weigh potential risks and benefits. Previous studies have reported a broad range of secondary findings ranging from 1 to 9%, merely attributable to differences in study design, cohorts tested, sequence technology used and genes analyzed...
October 5, 2018: European Journal of Human Genetics: EJHG
Martin B Delatycki
No abstract text is available yet for this article.
October 5, 2018: European Journal of Human Genetics: EJHG
MaryAnn Abacan, Lamia Alsubaie, Kristine Barlow-Stewart, Beppy Caanen, Christophe Cordier, Eliza Courtney, Emeline Davoine, Janice Edwards, Niby J Elackatt, Kate Gardiner, Yue Guan, Lian-Hua Huang, Charlotta Ingvoldstad Malmgren, Sahil Kejriwal, Hyon J Kim, Deborah Lambert, Paulina Araceli Lantigua-Cruz, Juliana M H Lee, Marianne Lodahl, Åshild Lunde, Shelley Macaulay, Ivan Macciocca, Sonia Margarit, Anna Middleton, Ramona Moldovan, Joanne Ngeow, Alexandra J Obregon-Tito, Kelly E Ormond, Milena Paneque, Karen Powell, Kunal Sanghavi, Diana Scotcher, Jenna Scott, Clara Serra Juhé, Shiri Shkedi-Rafid, Tina-Marié Wessels, Sook-Yee Yoon, Catherine Wicklund
The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession...
October 5, 2018: European Journal of Human Genetics: EJHG
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, Hester Y Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D Gelb, Jamal Ghoumid, Guylaine D'Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw-Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane-Yeboa, Gaetana Cerbone, Jill Clayton-Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cedric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah-Politi, Nicholas Stong, Tim M Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot
Deletions on chromosome 15q14 are a known chromosomal cause of cleft palate, typically co-occurring with intellectual disability, facial dysmorphism, and congenital heart defects. The identification of patients with loss-of-function variants in MEIS2, a gene within this deletion, suggests that these features are attributed to haploinsufficiency of MEIS2. To further delineate the phenotypic spectrum of the MEIS2-related syndrome, we collected 23 previously unreported patients with either a de novo sequence variant in MEIS2 (9 patients), or a 15q14 microdeletion affecting MEIS2 (14 patients)...
October 5, 2018: European Journal of Human Genetics: EJHG
Nadine Ame van der Beek, Isabelle Nelson, Roseline Froissart, Thierry Levade, Virginie Garcia, Emmanuelle Lacene, Anne Boland, Cécile Masson, Norma B Romero, Tanya Stojkovic, Gisèle Bonne, Anthony Béhin
No abstract text is available yet for this article.
October 5, 2018: European Journal of Human Genetics: EJHG
Lea Godino, Daniela Turchetti, Leigh Jackson, Catherine Hennessy, Heather Skirton
Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed. Two questionnaires were developed (one for young adults who had considered presymptomatic testing, one for parents). Questionnaires were completed by 152 (65.2%) young adults and 42 (73...
October 4, 2018: European Journal of Human Genetics: EJHG
Francisca Nordfalk, Claus Thorn Ekstrøm
Each year millions of newborns are part of a newborn disease-screening program in which, after initial screening, the newborn dried blood spot (NDBS) samples can be stored and used as a population-based research resource. However, very little knowledge exists about how these samples are used for secondary purposes. Our objective is to estimate and describe the usage of a NDBS-based national population biobank for secondary research purposes. We therefore conducted a scoping study with a literature search for all published articles using samples from the Danish Newborn Screening Biobank...
October 4, 2018: European Journal of Human Genetics: EJHG
Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings
With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service...
October 1, 2018: European Journal of Human Genetics: EJHG
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